ClinVar Miner

List of variants in gene ABCA4 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 608
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.570+1888A>G rs577059 0.99685
NM_000350.3(ABCA4):c.3050+538_3050+541del rs146620420 0.92164
NM_000350.3(ABCA4):c.5836-167C>T rs1191234 0.86731
NM_000350.3(ABCA4):c.6069T>C (p.Ile2023=) rs1762114 0.78856
NM_000350.3(ABCA4):c.769-86A>G rs574741 0.73478
NM_000350.3(ABCA4):c.2160+470T>C rs521538 0.70254
NM_000350.3(ABCA4):c.5585-70C>T rs537831 0.65778
NM_000350.3(ABCA4):c.5313-193A>G rs2275034 0.60161
NM_000350.3(ABCA4):c.4352+168A>G rs4147843 0.56299
NM_000350.3(ABCA4):c.4540-2169A>G rs3945204 0.56197
NM_000350.3(ABCA4):c.4128+156C>T rs4147841 0.56024
NM_000350.3(ABCA4):c.302+26A>G rs2297634 0.48752
NM_000350.3(ABCA4):c.442+80G>T rs11165073 0.48353
NM_000350.3(ABCA4):c.5313-283T>G rs3818778 0.48248
NM_000350.3(ABCA4):c.1240-14C>T rs4147830 0.47169
NM_000350.3(ABCA4):c.4353-220G>A rs4147846 0.46711
NM_000350.3(ABCA4):c.4353-300C>T rs4147844 0.42281
NM_000350.3(ABCA4):c.4353-230G>A rs4147845 0.41894
NM_000350.3(ABCA4):c.2744-244G>A rs544830 0.41858
NM_000350.3(ABCA4):c.66+208G>A rs3789451 0.41216
NM_000350.3(ABCA4):c.5460+62G>A rs2275033 0.40111
NM_000350.3(ABCA4):c.570+80T>C rs4847278 0.36670
NM_000350.3(ABCA4):c.2653+204T>G rs1191231 0.35972
NM_000350.3(ABCA4):c.3051-195C>A rs4147839 0.31799
NM_000350.3(ABCA4):c.5197-186T>C rs915201 0.31452
NM_000350.3(ABCA4):c.768+434A>G rs12088309 0.31451
NM_000350.3(ABCA4):c.5312+304A>G rs914957 0.31407
NM_000350.3(ABCA4):c.443-124A>G rs2297636 0.30085
NM_000350.3(ABCA4):c.6285T>C (p.Asp2095=) rs1801555 0.27862
NM_000350.3(ABCA4):c.1100-143G>A rs2275035 0.27633
NM_000350.3(ABCA4):c.1268A>G (p.His423Arg) rs3112831 0.25928
NM_000350.3(ABCA4):c.6816+127C>T rs4147872 0.25443
NM_000350.3(ABCA4):c.769-264T>C rs572960 0.24162
NM_000350.3(ABCA4):c.769-32T>C rs526016 0.24162
NM_000350.3(ABCA4):c.5312+227T>C rs914958 0.23862
NM_000350.3(ABCA4):c.5312+290_5312+291insT rs4147895 0.23836
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=) rs1801574 0.23813
NM_000350.3(ABCA4):c.5714+152del rs112614086 0.23806
NM_000350.3(ABCA4):c.5714+321G>A rs2065712 0.23789
NM_000350.3(ABCA4):c.5461-337G>A rs2893264 0.23768
NM_000350.3(ABCA4):c.5584+123G>A rs2065711 0.23742
NM_000350.3(ABCA4):c.1761-54G>A rs4147833 0.23727
NM_000350.3(ABCA4):c.5461-51del rs4147899 0.23674
NM_000350.3(ABCA4):c.160+212G>T rs7524869 0.22817
NM_000350.3(ABCA4):c.66+81A>G rs74102103 0.21036
NM_000350.3(ABCA4):c.161-288G>A rs1889404 0.20570
NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=) rs4147857 0.20473
NM_000350.3(ABCA4):c.5715-25A>C rs4147856 0.20432
NM_000350.3(ABCA4):c.5836-11G>A rs1800739 0.20309
NM_000350.3(ABCA4):c.5836-43C>A rs2275031 0.19847
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=) rs2275029 0.19626
NM_000350.3(ABCA4):c.5898+234G>A rs3789385 0.19599
NM_000350.3(ABCA4):c.5898+186T>C rs3789386 0.19581
NM_000350.3(ABCA4):c.5835+122T>G rs2275032 0.19529
NM_000350.3(ABCA4):c.5899-183G>A rs3789384 0.19516
NM_000350.3(ABCA4):c.6005+281C>T rs7531001 0.19503
NM_000350.3(ABCA4):c.6005+328A>G rs4147858 0.19392
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile) rs6666652 0.17582
NM_000350.3(ABCA4):c.302+330T>C rs4147810 0.16066
NM_000350.3(ABCA4):c.442+213T>C rs12093963 0.15909
NM_000350.3(ABCA4):c.302+101C>T rs2297635 0.15778
NM_000350.3(ABCA4):c.161-327C>A rs3789438 0.15225
NM_000350.3(ABCA4):c.6730-3T>C rs1800717 0.15096
NM_000350.3(ABCA4):c.6816+28G>C rs6666559 0.15041
NM_000350.3(ABCA4):c.5019-285A>G rs56031604 0.14334
NM_000350.3(ABCA4):c.6148-686G>A rs74102057 0.13430
NM_000350.3(ABCA4):c.6148-492T>C rs11804211 0.13338
NM_000350.3(ABCA4):c.6148-655T>C rs11804569 0.13336
NM_000350.3(ABCA4):c.6148-215G>A rs17110768 0.13322
NM_000350.3(ABCA4):c.6148-809C>T rs74102061 0.13322
NM_000350.3(ABCA4):c.6148-745A>G rs74102058 0.13320
NM_000350.3(ABCA4):c.6148-297C>T rs11805627 0.13318
NM_000350.3(ABCA4):c.6479+269G>A rs4147867 0.13316
NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=) rs1801359 0.13311
NM_000350.3(ABCA4):c.6148-184A>T rs74102054 0.13310
NM_000350.3(ABCA4):c.6148-794C>T rs74102060 0.13310
NM_000350.3(ABCA4):c.6479+283T>C rs12070278 0.13308
NM_000350.3(ABCA4):c.6282+7G>A rs17110761 0.13306
NM_000350.3(ABCA4):c.6480-102A>G rs10874826 0.13305
NM_000350.3(ABCA4):c.6480-101G>A rs10874825 0.13304
NM_000350.3(ABCA4):c.6148-777T>C rs74102059 0.13296
NM_000350.3(ABCA4):c.6729+312C>T rs17110743 0.12822
NM_000350.3(ABCA4):c.5715-300T>C rs55694362 0.11743
NM_000350.3(ABCA4):c.5715-220C>G rs56166161 0.11697
NM_000350.3(ABCA4):c.4128+201C>T rs7543524 0.11502
NM_000350.3(ABCA4):c.5585-120G>A rs7519657 0.10817
NM_000350.3(ABCA4):c.5019-176T>C rs17110850 0.10675
NM_000350.3(ABCA4):c.4253+106A>G rs56253197 0.10498
NM_000350.3(ABCA4):c.6147+219T>A rs72956573 0.10128
NM_000350.3(ABCA4):c.6729+51C>G rs7518454 0.09936
NM_000350.3(ABCA4):c.1269C>T (p.His423=) rs4147831 0.09402
NM_000350.3(ABCA4):c.6147+187G>C rs7533425 0.09227
NM_000350.3(ABCA4):c.570+1887C>T rs72725196 0.08930
NM_000350.3(ABCA4):c.4539+1770C>A rs17110885 0.08679
NM_000350.3(ABCA4):c.*372A>G rs3747961 0.07805
NM_000350.3(ABCA4):c.6282+176C>T rs4147864 0.07634
NM_000350.3(ABCA4):c.6817-202T>A rs17110718 0.06805
NM_000350.3(ABCA4):c.5313-109A>G rs56307710 0.06488
NM_000350.3(ABCA4):c.2918+115C>T rs17392369 0.06397
NM_000350.3(ABCA4):c.2160+49T>C rs56197337 0.05471
NM_000350.3(ABCA4):c.571-1949A>C rs3789423 0.05330
NM_000350.3(ABCA4):c.570+2008C>T rs3789424 0.05323
NM_000350.3(ABCA4):c.570+1697del rs3842498 0.05214
NM_000350.3(ABCA4):c.6006-85G>A rs2275028 0.05125
NM_000350.3(ABCA4):c.5461-284C>T rs4147855 0.05119
NM_000350.3(ABCA4):c.2654-47T>C rs12095320 0.05113
NM_000350.3(ABCA4):c.2161-139T>C rs17110958 0.05045
NM_000350.3(ABCA4):c.2744-262C>G rs72725166 0.05026
NM_000350.3(ABCA4):c.5196+1015A>G rs17389488 0.04989
NM_000350.3(ABCA4):c.635G>A (p.Arg212His) rs6657239 0.04939
NM_000350.3(ABCA4):c.3862+215G>A rs2001963 0.04935
NM_000350.3(ABCA4):c.2654-48G>C rs12069723 0.04589
NM_000350.3(ABCA4):c.67-150G>A rs72960501 0.04570
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466 0.04126
NM_000350.3(ABCA4):c.66+234A>G rs3789450 0.03926
NM_000350.3(ABCA4):c.67-141G>A rs74104524 0.03834
NM_000350.3(ABCA4):c.160+278G>A rs7524782 0.03667
NC_000001.11:g.94121334C>A rs11806223 0.03604
NC_000001.11:g.94121288G>A rs11802887 0.03601
NM_000350.3(ABCA4):c.4254-38G>A rs17110898 0.03389
NM_000350.3(ABCA4):c.1938-773A>G rs41292683 0.03309
NM_000350.3(ABCA4):c.4539+2029C>G rs17110883 0.03299
NM_000350.3(ABCA4):c.4539+1702A>G rs17110887 0.03263
NM_000350.3(ABCA4):c.5843C>T (p.Pro1948Leu) rs56142141 0.03191
NM_000350.3(ABCA4):c.2587+216C>A rs56375042 0.03127
NM_000350.3(ABCA4):c.3050+328A>G rs60221131 0.03043
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581 0.02951
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126 0.02895
NM_000350.3(ABCA4):c.3329-34A>G rs11810336 0.02890
NM_000350.3(ABCA4):c.3190+101G>A rs79871431 0.02596
NM_000350.3(ABCA4):c.6732G>A (p.Val2244=) rs77293072 0.02574
NM_000350.3(ABCA4):c.6817-85C>T rs75999881 0.02570
NM_000350.3(ABCA4):c.1100-186T>G rs17111014 0.02532
NM_000350.3(ABCA4):c.1099+123T>C rs6682366 0.02525
NM_000350.3(ABCA4):c.3050+170T>C rs17110925 0.02410
NM_000350.3(ABCA4):c.5019-131G>A rs55951001 0.02375
NM_000350.3(ABCA4):c.4129-278G>T rs78752241 0.02265
NM_000350.3(ABCA4):c.3863-87C>A rs6690840 0.02185
NM_000350.3(ABCA4):c.5197-95T>C rs72958426 0.02160
NM_000350.3(ABCA4):c.1760+169T>A rs17390419 0.02159
NM_000350.3(ABCA4):c.5196+899C>T rs145838948 0.02157
NM_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln) rs61750129 0.02065
NM_000350.3(ABCA4):c.6148-389G>A rs17110776 0.02027
NM_000350.3(ABCA4):c.5460+222C>G rs72958420 0.01956
NM_000350.3(ABCA4):c.2744-124G>A rs77305056 0.01910
NM_000350.3(ABCA4):c.6480-224T>C rs74641924 0.01690
NM_000350.3(ABCA4):c.4129-119C>T rs74102090 0.01660
NM_000350.3(ABCA4):c.4540-2095G>C rs79767440 0.01616
NM_000350.3(ABCA4):c.6148-403A>G rs115876130 0.01575
NM_000350.3(ABCA4):c.*134G>A rs76201551 0.01542
NM_000350.3(ABCA4):c.4634+136G>T rs75843983 0.01518
NM_000350.3(ABCA4):c.5197-93C>T rs72725148 0.01501
NM_000350.3(ABCA4):c.3523-288C>T rs72725162 0.01477
NM_000350.3(ABCA4):c.6729+61G>A rs56086814 0.01469
NM_000350.3(ABCA4):c.2964C>T (p.Leu988=) rs61754034 0.01415
NM_000350.3(ABCA4):c.769-157T>G rs76277422 0.01380
NM_000350.3(ABCA4):c.4129-70T>A rs143653650 0.01351
NM_000350.3(ABCA4):c.1239+71T>A rs113931184 0.01349
NM_000350.3(ABCA4):c.4667+133C>T rs41292679 0.01322
NM_000350.3(ABCA4):c.2653+239T>C rs75331129 0.01320
NM_000350.3(ABCA4):c.3051-193T>C rs4847272 0.01240
NM_000350.3(ABCA4):c.4668-113G>A rs115406048 0.01232
NM_000350.3(ABCA4):c.1761-50G>A rs61754022 0.01220
NM_000350.3(ABCA4):c.2588-33C>T rs77805080 0.01197
NM_000350.3(ABCA4):c.3522+31C>A rs115209782 0.01145
NM_000350.3(ABCA4):c.1554+287T>C rs141819216 0.01096
NM_000350.3(ABCA4):c.5585-126T>C rs75549082 0.01088
NM_000350.3(ABCA4):c.3328+125T>A rs6675679 0.01087
NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn) rs1800555 0.01028
NM_000350.3(ABCA4):c.3051-14T>A rs17110922 0.01008
NM_000350.3(ABCA4):c.6729+21C>T rs1800699 0.00981
NM_000350.3(ABCA4):c.67-237C>T rs116306224 0.00946
NM_000350.3(ABCA4):c.2161-287dup rs3838277 0.00942
NM_000350.3(ABCA4):c.1239+66G>A rs200943894 0.00927
NM_000350.3(ABCA4):c.1357-110C>A rs74104506 0.00927
NM_000350.3(ABCA4):c.6730-32T>A rs116314807 0.00921
NM_000350.3(ABCA4):c.3523-85C>T rs72958470 0.00912
NM_000350.3(ABCA4):c.3523-234G>A rs72958474 0.00908
NM_000350.3(ABCA4):c.3523-230G>T rs72958472 0.00905
NM_000350.3(ABCA4):c.1761-64G>A rs116585401 0.00864
NM_000350.3(ABCA4):c.1938-227G>A rs75396612 0.00855
NM_000350.3(ABCA4):c.768+508A>G rs77933221 0.00825
NM_000350.3(ABCA4):c.6479+272T>C rs113740227 0.00705
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_000350.3(ABCA4):c.2653+57C>T rs114978109 0.00641
NM_000350.3(ABCA4):c.2743+155G>T rs114681343 0.00638
NM_000350.3(ABCA4):c.1356+173G>A rs116563912 0.00630
NM_000350.3(ABCA4):c.570+20C>T rs78637152 0.00569
NM_000350.3(ABCA4):c.302+20C>T rs61753050 0.00508
NM_000350.3(ABCA4):c.1761-37G>A rs61754021 0.00491
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met) rs61749417 0.00491
NM_000350.3(ABCA4):c.4253+43G>A rs61754045 0.00486
NM_000350.3(ABCA4):c.443-228C>A rs143202470 0.00468
NM_000350.3(ABCA4):c.2918+195G>A rs140802897 0.00457
NM_000350.3(ABCA4):c.*136G>A rs55665437 0.00448
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_000350.3(ABCA4):c.4668-38C>T rs61754053 0.00423
NM_000350.3(ABCA4):c.4668-96C>T rs9661576 0.00421
NM_000350.3(ABCA4):c.5898+87A>G rs116198846 0.00389
NM_000350.3(ABCA4):c.2546T>C (p.Val849Ala) rs61749435 0.00385
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473 0.00362
NM_000350.3(ABCA4):c.4254-47T>C rs56142328 0.00359
NM_000350.3(ABCA4):c.768+62C>T rs17111045 0.00354
NM_000350.3(ABCA4):c.3862+232G>A rs11582150 0.00342
NM_000350.3(ABCA4):c.4352+14C>T rs75359153 0.00325
NM_000350.3(ABCA4):c.1878G>A (p.Ala626=) rs61754023 0.00324
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00308
NM_000350.3(ABCA4):c.237T>C (p.Asn79=) rs149381884 0.00306
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln) rs62646862 0.00276
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000350.3(ABCA4):c.769-210G>A rs185566364 0.00266
NM_000350.3(ABCA4):c.1654G>A (p.Val552Ile) rs145525174 0.00246
NM_000350.3(ABCA4):c.1653G>A (p.Val551=) rs61753963 0.00243
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val) rs62646863 0.00222
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg) rs61749455 0.00194
NM_000350.3(ABCA4):c.5196+1159G>A rs80110715 0.00191
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile) rs56357060 0.00189
NM_000350.3(ABCA4):c.6255C>T (p.Leu2085=) rs61748519 0.00185
NM_000350.3(ABCA4):c.2588-12C>G rs61751396 0.00183
NM_000350.3(ABCA4):c.838A>T (p.Met280Leu) rs138682163 0.00183
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly) rs61754024 0.00178
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_000350.3(ABCA4):c.1610G>A (p.Arg537His) rs61752395 0.00176
NM_000350.3(ABCA4):c.2701A>G (p.Thr901Ala) rs61754030 0.00174
NM_000350.3(ABCA4):c.4253+13G>A rs145766145 0.00168
NM_000350.3(ABCA4):c.-92C>T rs200102393 0.00161
NM_000350.3(ABCA4):c.4283C>T (p.Thr1428Met) rs1800549 0.00160
NM_000350.3(ABCA4):c.574G>A (p.Ala192Thr) rs61748535 0.00158
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552 0.00153
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met) rs58331765 0.00136
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile) rs61749440 0.00133
NM_000350.3(ABCA4):c.3191-20C>T rs61754036 0.00130
NM_000350.3(ABCA4):c.2653+23C>G rs2297632 0.00122
NM_000350.3(ABCA4):c.-34C>T rs375186173 0.00112
NM_000350.3(ABCA4):c.4050G>C (p.Leu1350=) rs141004967 0.00112
NM_000350.3(ABCA4):c.317A>T (p.Tyr106Phe) rs201150919 0.00100
NM_000350.3(ABCA4):c.4467G>T (p.Arg1489Ser) rs140952412 0.00098
NM_000350.3(ABCA4):c.1500G>A (p.Arg500=) rs139050119 0.00097
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys) rs1800548 0.00090
NM_000350.3(ABCA4):c.2966T>C (p.Val989Ala) rs61749454 0.00089
NM_000350.3(ABCA4):c.4129-17C>T rs200194007 0.00088
NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile) rs61750563 0.00088
NM_000350.3(ABCA4):c.1932C>T (p.Asp644=) rs117400594 0.00078
NM_000350.3(ABCA4):c.-94G>T rs113514871 0.00076
NM_000350.3(ABCA4):c.5056G>A (p.Val1686Met) rs61753019 0.00076
NM_000350.3(ABCA4):c.3297A>C (p.Ser1099=) rs148917659 0.00073
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys) rs61748549 0.00066
NM_000350.3(ABCA4):c.1356+11_1356+12insG rs1557794244 0.00065
NM_000350.3(ABCA4):c.3050+16A>G rs111546154 0.00055
NM_000350.3(ABCA4):c.981C>T (p.Pro327=) rs61753057 0.00054
NM_000350.3(ABCA4):c.6730-19G>A rs375179475 0.00052
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641 0.00048
NM_000350.3(ABCA4):c.5196+20G>A rs55715124 0.00045
NM_000350.3(ABCA4):c.926C>G (p.Pro309Arg) rs61748545 0.00039
NM_000350.3(ABCA4):c.1240-8G>C rs185225547 0.00038
NM_000350.3(ABCA4):c.1692A>G (p.Pro564=) rs143263315 0.00037
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_000350.3(ABCA4):c.6316C>T (p.Arg2106Cys) rs61750648 0.00034
NM_000350.3(ABCA4):c.1964T>G (p.Phe655Cys) rs200692438 0.00033
NM_000350.3(ABCA4):c.4296C>T (p.Asp1432=) rs368147821 0.00032
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_000350.3(ABCA4):c.2486C>T (p.Thr829Met) rs139250920 0.00029
NM_000350.3(ABCA4):c.294C>G (p.Asn98Lys) rs145133167 0.00028
NM_000350.3(ABCA4):c.3076T>C (p.Phe1026Leu) rs369703217 0.00028
NM_000350.3(ABCA4):c.2383-13C>T rs56026711 0.00026
NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln) rs148460146 0.00024
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130 0.00023
NM_000350.3(ABCA4):c.1155C>T (p.Ile385=) rs376624031 0.00022
NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu) rs1801269 0.00022
NM_000350.3(ABCA4):c.1592A>G (p.Glu531Gly) rs145718830 0.00020
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) rs61750120 0.00019
NM_000350.3(ABCA4):c.4128+16G>A rs61783968 0.00018
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) rs61751408 0.00018
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met) rs61750152 0.00016
NM_000350.3(ABCA4):c.5312+8G>A rs187953772 0.00016
NM_000350.3(ABCA4):c.6522G>A (p.Pro2174=) rs143909323 0.00015
NM_000350.3(ABCA4):c.2673A>T (p.Glu891Asp) rs766079334 0.00014
NM_000350.3(ABCA4):c.3264C>T (p.Pro1088=) rs140876019 0.00014
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala) rs121909207 0.00014
NM_000350.3(ABCA4):c.5196+1137G>A rs778234759 0.00013
NM_000350.3(ABCA4):c.3329-11C>T rs367580653 0.00011
NM_000350.3(ABCA4):c.3285C>T (p.Tyr1095=) rs570745701 0.00010
NM_000350.3(ABCA4):c.6718A>G (p.Thr2240Ala) rs779585931 0.00010
NM_000350.3(ABCA4):c.2813T>C (p.Phe938Ser) rs149071415 0.00009
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu) rs61750145 0.00009
NM_000350.3(ABCA4):c.872C>T (p.Pro291Leu) rs190540405 0.00009
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) rs61750200 0.00008
NM_000350.3(ABCA4):c.673G>A (p.Val225Met) rs540124349 0.00008
NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser) rs201471607 0.00007
NM_000350.3(ABCA4):c.5881G>A (p.Gly1961Arg) rs142253670 0.00007
NM_000350.3(ABCA4):c.1267C>T (p.His423Tyr) rs138044729 0.00006
NM_000350.3(ABCA4):c.1531C>T (p.Arg511Cys) rs752786160 0.00006
NM_000350.3(ABCA4):c.1818C>T (p.Gly606=) rs377164833 0.00006
NM_000350.3(ABCA4):c.2453G>A (p.Gly818Glu) rs61750202 0.00006
NM_000350.3(ABCA4):c.2646C>T (p.Gly882=) rs180921875 0.00006
NM_000350.3(ABCA4):c.302+1G>A rs61751413 0.00006
NM_000350.3(ABCA4):c.3184C>A (p.Leu1062Ile) rs966434923 0.00006
NM_000350.3(ABCA4):c.3292C>T (p.Arg1098Cys) rs756840095 0.00006
NM_000350.3(ABCA4):c.3523-9C>G rs374302531 0.00006
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr) rs61751402 0.00006
NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn) rs62642574 0.00006
NM_000350.3(ABCA4):c.4610C>T (p.Thr1537Met) rs62642575 0.00006
NM_000350.3(ABCA4):c.5898+20C>T rs761429989 0.00006
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944 0.00006
NM_000350.3(ABCA4):c.1294G>A (p.Glu432Lys) rs201117452 0.00005
NM_000350.3(ABCA4):c.4417C>A (p.Leu1473Met) rs142732109 0.00005
NM_000350.3(ABCA4):c.52C>T (p.Arg18Trp) rs121909205 0.00005
NM_000350.3(ABCA4):c.570+1798A>G rs888731641 0.00005
NM_000350.3(ABCA4):c.6449G>A (p.Cys2150Tyr) rs61751384 0.00005
NM_000350.3(ABCA4):c.1208A>T (p.Asp403Val) rs913030626 0.00004
NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter) rs61748550 0.00004
NM_000350.3(ABCA4):c.156T>G (p.His52Gln) rs557725292 0.00004
NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr) rs150774447 0.00004
NM_000350.3(ABCA4):c.1819G>A (p.Gly607Arg) rs61749412 0.00004
NM_000350.3(ABCA4):c.1958G>A (p.Arg653His) rs141823837 0.00004
NM_000350.3(ABCA4):c.2300T>A (p.Val767Asp) rs61751395 0.00004
NM_000350.3(ABCA4):c.3539C>T (p.Ser1180Leu) rs267598773 0.00004
NM_000350.3(ABCA4):c.4169T>C (p.Leu1390Pro) rs61752430 0.00004
NM_000350.3(ABCA4):c.4539+2028C>T rs869320785 0.00004
NM_000350.3(ABCA4):c.5114G>A (p.Arg1705Gln) rs61753021 0.00004
NM_000350.3(ABCA4):c.5560G>T (p.Val1854Leu) rs374687000 0.00004
NM_000350.3(ABCA4):c.6112C>T (p.Arg2038Trp) rs61750643 0.00004
NM_000350.3(ABCA4):c.6218G>C (p.Gly2073Ala) rs752850266 0.00004
NM_000350.3(ABCA4):c.1003C>T (p.Leu335Phe) rs1057520668 0.00003
NM_000350.3(ABCA4):c.1319A>G (p.Tyr440Cys) rs770439859 0.00003
NM_000350.3(ABCA4):c.1493A>G (p.Asp498Gly) rs147135304 0.00003
NM_000350.3(ABCA4):c.1609C>T (p.Arg537Cys) rs61748556 0.00003
NM_000350.3(ABCA4):c.1655T>C (p.Val552Ala) rs141864243 0.00003
NM_000350.3(ABCA4):c.1937+1G>A rs61752401 0.00003
NM_000350.3(ABCA4):c.2311A>T (p.Thr771Ser) rs758090662 0.00003
NM_000350.3(ABCA4):c.2432G>A (p.Arg811His) rs368016280 0.00003
NM_000350.3(ABCA4):c.3481C>T (p.Arg1161Cys) rs553776104 0.00003
NM_000350.3(ABCA4):c.370C>T (p.Arg124Cys) rs138359497 0.00003
NM_000350.3(ABCA4):c.4539+2001G>A rs1457937638 0.00003
NM_000350.3(ABCA4):c.5087G>A (p.Ser1696Asn) rs61750564 0.00003
NM_000350.3(ABCA4):c.5413A>G (p.Asn1805Asp) rs61753029 0.00003
NM_000350.3(ABCA4):c.5761G>A (p.Val1921Met) rs61753032 0.00003
NM_000350.3(ABCA4):c.1538T>C (p.Val513Ala) rs750393418 0.00002
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp) rs61749409 0.00002
NM_000350.3(ABCA4):c.1906C>T (p.Gln636Ter) rs145961131 0.00002
NM_000350.3(ABCA4):c.1962T>C (p.Cys654=) rs976467572 0.00002
NM_000350.3(ABCA4):c.3050+5G>A rs61751262 0.00002
NM_000350.3(ABCA4):c.3056C>T (p.Thr1019Met) rs201855602 0.00002
NM_000350.3(ABCA4):c.3385C>T (p.Arg1129Cys) rs779426136 0.00002
NM_000350.3(ABCA4):c.3449G>A (p.Cys1150Tyr) rs375783686 0.00002
NM_000350.3(ABCA4):c.3898C>T (p.Arg1300Ter) rs61752427 0.00002
NM_000350.3(ABCA4):c.4248C>A (p.Phe1416Leu) rs1480701186 0.00002
NM_000350.3(ABCA4):c.4256T>C (p.Met1419Thr) rs142673376 0.00002
NM_000350.3(ABCA4):c.6109G>A (p.Ala2037Thr) rs756555985 0.00002
NM_000350.3(ABCA4):c.656G>C (p.Arg219Thr) rs61748537 0.00002
NM_000350.3(ABCA4):c.1015T>G (p.Trp339Gly) rs61751420 0.00001
NM_000350.3(ABCA4):c.1097C>T (p.Thr366Ile) rs749494322 0.00001
NM_000350.3(ABCA4):c.1253T>C (p.Phe418Ser) rs794726979 0.00001
NM_000350.3(ABCA4):c.1293G>A (p.Trp431Ter) rs886044725 0.00001
NM_000350.3(ABCA4):c.1529T>C (p.Leu510Pro) rs886039299 0.00001
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg) rs61748558 0.00001
NM_000350.3(ABCA4):c.1817G>A (p.Gly606Asp) rs147932486 0.00001
NM_000350.3(ABCA4):c.185C>T (p.Pro62Leu) rs1057520211 0.00001
NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys) rs61749420 0.00001
NM_000350.3(ABCA4):c.1A>G (p.Met1Val) rs201738997 0.00001
NM_000350.3(ABCA4):c.2023G>A (p.Val675Ile) rs575453437 0.00001
NM_000350.3(ABCA4):c.2461T>A (p.Trp821Arg) rs61749433 0.00001
NM_000350.3(ABCA4):c.247_250dup (p.Ser84fs) rs1005271380 0.00001
NM_000350.3(ABCA4):c.2564G>A (p.Trp855Ter) rs61752406 0.00001
NM_000350.3(ABCA4):c.2608C>T (p.Pro870Ser) rs867875828 0.00001
NM_000350.3(ABCA4):c.2609C>T (p.Pro870Leu) rs746566873 0.00001
NM_000350.3(ABCA4):c.2742C>T (p.His914=) rs1362746093 0.00001
NM_000350.3(ABCA4):c.2965G>A (p.Val989Ile) rs552307838 0.00001
NM_000350.3(ABCA4):c.3041T>G (p.Leu1014Arg) rs61749456 0.00001
NM_000350.3(ABCA4):c.3064G>A (p.Glu1022Lys) rs61749459 0.00001
NM_000350.3(ABCA4):c.3194G>A (p.Gly1065Asp) rs886039300 0.00001
NM_000350.3(ABCA4):c.319C>T (p.Arg107Ter) rs765429911 0.00001
NM_000350.3(ABCA4):c.3212C>T (p.Ser1071Leu) rs61750065 0.00001
NM_000350.3(ABCA4):c.3259G>A (p.Glu1087Lys) rs61751398 0.00001
NM_000350.3(ABCA4):c.3352C>T (p.His1118Tyr) rs369440533 0.00001
NM_000350.3(ABCA4):c.3403C>T (p.Gln1135Ter) rs1057517701 0.00001
NM_000350.3(ABCA4):c.3409A>G (p.Arg1137Gly) rs765328414 0.00001
NM_000350.3(ABCA4):c.3428C>A (p.Thr1143Asn) rs767894041 0.00001
NM_000350.3(ABCA4):c.4022G>A (p.Gly1341Asp) rs779248561 0.00001
NM_000350.3(ABCA4):c.4038G>A (p.Thr1346=) rs142418039 0.00001
NM_000350.3(ABCA4):c.4124C>T (p.Ala1375Val) rs1267585230 0.00001
NM_000350.3(ABCA4):c.4129-16G>A rs762600499 0.00001
NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg) rs61750135 0.00001
NM_000350.3(ABCA4):c.4234C>T (p.Gln1412Ter) rs61750137 0.00001
NM_000350.3(ABCA4):c.4253+4C>T rs61754044 0.00001
NM_000350.3(ABCA4):c.4326C>A (p.Asn1442Lys) rs762150575 0.00001
NM_000350.3(ABCA4):c.4363T>C (p.Cys1455Arg) rs758835368 0.00001
NM_000350.3(ABCA4):c.4407C>T (p.Asn1469=) rs750526487 0.00001
NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg) rs61750146 0.00001
NM_000350.3(ABCA4):c.4501G>T (p.Glu1501Ter) rs888059763 0.00001
NM_000350.3(ABCA4):c.4532C>A (p.Pro1511His) rs886046564 0.00001
NM_000350.3(ABCA4):c.4667G>C (p.Arg1556Thr) rs1385119665 0.00001
NM_000350.3(ABCA4):c.5128A>C (p.Lys1710Gln) rs778747291 0.00001
NM_000350.3(ABCA4):c.5138A>G (p.Gln1713Arg) rs755826006 0.00001
NM_000350.3(ABCA4):c.5196+1G>A rs61751377 0.00001
NM_000350.3(ABCA4):c.5316G>A (p.Trp1772Ter) rs61750571 0.00001
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val) rs760549861 0.00001
NM_000350.3(ABCA4):c.5327C>T (p.Pro1776Leu) rs1553187939 0.00001
NM_000350.3(ABCA4):c.5337C>G (p.Tyr1779Ter) rs61750573 0.00001
NM_000350.3(ABCA4):c.5572T>A (p.Tyr1858Asn) rs371489809 0.00001
NM_000350.3(ABCA4):c.564del (p.Glu189fs) rs886044148 0.00001
NM_000350.3(ABCA4):c.5659G>A (p.Val1887Met) rs764320529 0.00001
NM_000350.3(ABCA4):c.5836-3C>A rs1064793013 0.00001
NM_000350.3(ABCA4):c.5929G>A (p.Gly1977Ser) rs61750639 0.00001
NM_000350.3(ABCA4):c.5955C>T (p.Leu1985=) rs201545948 0.00001
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) rs61751383 0.00001
NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter) rs61753038 0.00001
NM_000350.3(ABCA4):c.6146A>C (p.Lys2049Thr) rs760481450 0.00001
NM_000350.3(ABCA4):c.6286G>A (p.Glu2096Lys) rs61750646 0.00001
NM_000350.3(ABCA4):c.6317G>A (p.Arg2106His) rs1057520213 0.00001
NM_000350.3(ABCA4):c.6386+2C>G rs61753043 0.00001
NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter) rs61750654 0.00001
NM_000350.3(ABCA4):c.769-3C>T rs368010652 0.00001
NM_000350.3(ABCA4):c.873G>A (p.Pro291=) rs61753054 0.00001
NM_000350.3(ABCA4):c.933C>T (p.Thr311=) rs61753056 0.00001
NM_000350.2:c.+10C>A
NM_000350.3(ABCA4):c.-41G>T rs61784004
NM_000350.3(ABCA4):c.1002G>C (p.Val334=) rs751548532
NM_000350.3(ABCA4):c.1013A>G (p.Asn338Ser) rs1057522235
NM_000350.3(ABCA4):c.1086T>A (p.Tyr362Ter) rs61752390
NM_000350.3(ABCA4):c.1099+166G>A
NM_000350.3(ABCA4):c.1099+80A>G
NM_000350.3(ABCA4):c.1100-14T>C rs61753059
NM_000350.3(ABCA4):c.1100-2A>T rs886042034
NM_000350.3(ABCA4):c.122G>A (p.Trp41Ter) rs61751410
NM_000350.3(ABCA4):c.1239+49TG[10] rs4147886
NM_000350.3(ABCA4):c.1239+49TG[13] rs4147886
NM_000350.3(ABCA4):c.1239+49TG[9]
NM_000350.3(ABCA4):c.1240-65del rs3215952
NM_000350.3(ABCA4):c.1248A>C (p.Ser416=) rs61753960
NM_000350.3(ABCA4):c.1262T>G (p.Leu421Arg) rs1661604529
NM_000350.3(ABCA4):c.1267C>A (p.His423Asn) rs138044729
NM_000350.3(ABCA4):c.1317G>A (p.Trp439Ter) rs61752391
NM_000350.3(ABCA4):c.1325T>C (p.Phe442Ser) rs61752392
NM_000350.3(ABCA4):c.1356+10dup rs281865386
NM_000350.3(ABCA4):c.1356+3_1356+4insG rs2101102814
NM_000350.3(ABCA4):c.1356+5_1356+6insC rs1553193877
NM_000350.3(ABCA4):c.1356+5_1356+6insT rs1553193877
NM_000350.3(ABCA4):c.1356+6_1356+7insC rs886046568
NM_000350.3(ABCA4):c.1363C>A (p.Leu455Met) rs764170051
NM_000350.3(ABCA4):c.1496G>A (p.Trp499Ter) rs1661575232
NM_000350.3(ABCA4):c.1497G>A (p.Trp499Ter) rs1553193813
NM_000350.3(ABCA4):c.1546T>C (p.Tyr516His) rs2101100877
NM_000350.3(ABCA4):c.158A>T (p.Glu53Val) rs1662652110
NM_000350.3(ABCA4):c.160+5G>C rs1064793004
NM_000350.3(ABCA4):c.161-275G>A rs1889405
NM_000350.3(ABCA4):c.1714C>T (p.Arg572Ter) rs1557787756
NM_000350.3(ABCA4):c.1715G>C (p.Arg572Pro) rs61748559
NM_000350.3(ABCA4):c.1760+22G>T rs61754020
NM_000350.3(ABCA4):c.1765del (p.Trp589fs) rs1557787559
NM_000350.3(ABCA4):c.1807T>C (p.Tyr603His) rs1064793006
NM_000350.3(ABCA4):c.1825G>C (p.Ala609Pro) rs2101078330
NM_000350.3(ABCA4):c.1834C>T (p.Gln612Ter) rs1057517700
NM_000350.3(ABCA4):c.1844T>C (p.Val615Ala) rs2101078285
NM_000350.3(ABCA4):c.1853G>A (p.Gly618Glu) rs61751394
NM_000350.3(ABCA4):c.1919C>T (p.Pro640Leu) rs760790294
NM_000350.3(ABCA4):c.1988G>A (p.Trp663Ter) rs865990202
NM_000350.3(ABCA4):c.2005_2006del (p.Met669fs) rs61749422
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter) rs61749423
NM_000350.3(ABCA4):c.2069G>T (p.Gly690Val) rs942734318
NM_000350.3(ABCA4):c.2073_2079delinsACCTGGTTCA (p.Ser692_Asn693delinsProGlySer)
NM_000350.3(ABCA4):c.2075C>T (p.Ser692Phe)
NM_000350.3(ABCA4):c.2160+1G>C rs61749427
NM_000350.3(ABCA4):c.2182A>G (p.Ser728Gly) rs1064793007
NM_000350.3(ABCA4):c.2249T>C (p.Leu750Pro) rs1064793008
NM_000350.3(ABCA4):c.2294GTG[1] (p.Gly766del) rs2101069736
NM_000350.3(ABCA4):c.229G>A (p.Val77Met) rs1662603511
NM_000350.3(ABCA4):c.2330T>A (p.Ile777Asn) rs2101069681
NM_000350.3(ABCA4):c.234C>T (p.Asn78=) rs61753049
NM_000350.3(ABCA4):c.2353C>G (p.Arg785Gly) rs781254854
NM_000350.3(ABCA4):c.2353C>T (p.Arg785Cys) rs781254854
NM_000350.3(ABCA4):c.2382+1G>A rs1660983058
NM_000350.3(ABCA4):c.2529G>A (p.Met843Ile) rs1660938718
NM_000350.3(ABCA4):c.2537A>T (p.Asp846Val) rs779466403
NM_000350.3(ABCA4):c.2566T>A (p.Tyr856Asn) rs201223321
NM_000350.3(ABCA4):c.2626C>T (p.Gln876Ter) rs1660843703
NM_000350.3(ABCA4):c.2859C>A (p.Phe953Leu)
NM_000350.3(ABCA4):c.286A>C (p.Asn96His) rs61748529
NM_000350.3(ABCA4):c.2875A>G (p.Thr959Ala) rs368846708
NM_000350.3(ABCA4):c.288C>A (p.Asn96Lys) rs886039297
NM_000350.3(ABCA4):c.2900C>T (p.Ala967Val) rs1291080436
NM_000350.3(ABCA4):c.2948C>T (p.Thr983Ile) rs61752411
NM_000350.3(ABCA4):c.296dup (p.Asn99fs) rs62645948
NM_000350.3(ABCA4):c.303-144G>C rs191396638
NM_000350.3(ABCA4):c.303-71del rs4147877
NM_000350.3(ABCA4):c.3050+362_3050+370del rs1056176825
NM_000350.3(ABCA4):c.3050+509A>G rs56703905
NM_000350.3(ABCA4):c.3051-16T>A rs1064793009
NM_000350.3(ABCA4):c.3051-297dup rs4147890
NM_000350.3(ABCA4):c.3055A>G (p.Thr1019Ala) rs61749457
NM_000350.3(ABCA4):c.3085C>T (p.Gln1029Ter) rs61751397
NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs) rs387906385
NM_000350.3(ABCA4):c.3268T>C (p.Ser1090Pro) rs1131691351
NM_000350.3(ABCA4):c.3305A>C (p.Asp1102Ala) rs143689372
NM_000350.3(ABCA4):c.3328+2T>A rs1660527423
NM_000350.3(ABCA4):c.3329-112del rs4147891
NM_000350.3(ABCA4):c.3389T>C (p.Ile1130Thr) rs1064793010
NM_000350.3(ABCA4):c.339C>T (p.Leu113=) rs1553196340
NM_000350.3(ABCA4):c.3470T>G (p.Leu1157Ter) rs2101048479
NM_000350.3(ABCA4):c.3522+10T>G rs763137165
NM_000350.3(ABCA4):c.3607G>A (p.Gly1203Arg) rs1064793011
NM_000350.3(ABCA4):c.37A>G (p.Lys13Glu) rs1131691262
NM_000350.3(ABCA4):c.384G>A (p.Glu128=) rs2101155846
NM_000350.3(ABCA4):c.3863-64del rs4147892
NM_000350.3(ABCA4):c.3G>T (p.Met1Ile) rs886041554
NM_000350.3(ABCA4):c.4049T>C (p.Leu1350Pro) rs1064793012
NM_000350.3(ABCA4):c.4070C>T (p.Ala1357Val) rs552517556
NM_000350.3(ABCA4):c.4128G>A (p.Gln1376=) rs1064797113
NM_000350.3(ABCA4):c.4129-59G>A
NM_000350.3(ABCA4):c.4203C>A (p.Pro1401=) rs1801666
NM_000350.3(ABCA4):c.4220C>T (p.Pro1407Leu) rs1064797091
NM_000350.3(ABCA4):c.4225A>G (p.Ile1409Val) rs2101035728
NM_000350.3(ABCA4):c.424C>T (p.His142Tyr) rs1085307835
NM_000350.3(ABCA4):c.4253+5G>T rs61750138
NM_000350.3(ABCA4):c.4254-171C>T rs2297671
NM_000350.3(ABCA4):c.4352+32A>G rs75424561
NM_000350.3(ABCA4):c.4352+54A>G rs547806
NM_000350.3(ABCA4):c.4352+5G>T rs1660166597
NM_000350.3(ABCA4):c.4353-33C>G rs72958466
NM_000350.3(ABCA4):c.4406A>G (p.Asn1469Ser) rs745321062
NM_000350.3(ABCA4):c.443-241del rs4147878
NM_000350.3(ABCA4):c.443-244C>G rs58269697
NM_000350.3(ABCA4):c.4519G>T (p.Gly1507Trp) rs568792949
NM_000350.3(ABCA4):c.4537del (p.Gln1513fs) rs281865377
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) rs281865377
NM_000350.3(ABCA4):c.4539+2064C>T rs1553189179
NM_000350.3(ABCA4):c.4540-2026CT[4] rs151095233
NM_000350.3(ABCA4):c.4540-2036C>A rs886044743
NM_000350.3(ABCA4):c.4611G>A (p.Thr1537=) rs138475920
NM_000350.3(ABCA4):c.4637T>G (p.Leu1546Ter) rs1131691612
NM_000350.3(ABCA4):c.4639A>T (p.Lys1547Ter)
NM_000350.3(ABCA4):c.4668-15C>T rs61754054
NM_000350.3(ABCA4):c.478G>T (p.Glu160Ter) rs1064793005
NM_000350.3(ABCA4):c.5019-98C>T rs116362338
NM_000350.3(ABCA4):c.5059A>T (p.Ile1687Phe) rs201996979
NM_000350.3(ABCA4):c.5090T>G (p.Phe1697Cys)
NM_000350.3(ABCA4):c.5137_5138delinsAG (p.Gln1713Arg) rs1659840790
NM_000350.3(ABCA4):c.5161_5162del (p.Thr1721fs) rs61750566
NM_000350.3(ABCA4):c.5196+1078del rs3838275
NM_000350.3(ABCA4):c.5196+1136C>A rs114147805
NM_000350.3(ABCA4):c.5196+1364GT[6] rs3838274
NM_000350.3(ABCA4):c.5196+3_5196+6del rs61753023
NM_000350.3(ABCA4):c.5222_5232del (p.Leu1741fs) rs61750569
NM_000350.3(ABCA4):c.5282C>G (p.Pro1761Arg) rs1057520212
NM_000350.3(ABCA4):c.5312+2T>G rs1307108997
NM_000350.3(ABCA4):c.5457C>G (p.Asn1819Lys) rs1181315221
NM_000350.3(ABCA4):c.5460+168_5460+179del rs143222183
NM_000350.3(ABCA4):c.5460+169_5460+184del rs375415519
NM_000350.3(ABCA4):c.5461-291A>C rs565155
NM_000350.3(ABCA4):c.5461-44dup rs281865391
NM_000350.3(ABCA4):c.5527C>T (p.Arg1843Trp) rs62642576
NM_000350.3(ABCA4):c.5531G>A (p.Gly1844Asp) rs1659540498
NM_000350.3(ABCA4):c.5584G>A (p.Gly1862Ser) rs1659538637
NM_000350.3(ABCA4):c.5584G>C (p.Gly1862Arg) rs1659538637
NM_000350.3(ABCA4):c.5646G>A (p.Met1882Ile) rs752160946
NM_000350.3(ABCA4):c.5714+5G>T rs61751407
NM_000350.3(ABCA4):c.5715-107G>A
NM_000350.3(ABCA4):c.5843_5844inv (p.Pro1948Leu)
NM_000350.3(ABCA4):c.5867_5870del (p.Asp1956fs) rs1553187228
NM_000350.3(ABCA4):c.5898+1G>A rs61750638
NM_000350.3(ABCA4):c.5932A>G (p.Lys1978Glu) rs1064793014
NM_000350.3(ABCA4):c.5981G>A (p.Gly1994Glu)
NM_000350.3(ABCA4):c.6005+156_6005+160del rs3831252
NM_000350.3(ABCA4):c.6005+330del rs3838272
NM_000350.3(ABCA4):c.6006-16G>A rs4147863
NM_000350.3(ABCA4):c.6031C>T (p.His2011Tyr) rs1057523778
NM_000350.3(ABCA4):c.6077T>C (p.Leu2026Pro) rs886044758
NM_000350.3(ABCA4):c.6148-242C>G rs11805625
NM_000350.3(ABCA4):c.6148-2A>G
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg) rs61748536
NM_000350.3(ABCA4):c.618C>T (p.Ser206=) rs61748536
NM_000350.3(ABCA4):c.6215G>A (p.Ser2072Asn) rs1553186514
NM_000350.3(ABCA4):c.6229C>G (p.Arg2077Gly) rs61750645
NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp) rs61750645
NM_000350.3(ABCA4):c.6238_6239del (p.Ser2080fs) rs281865382
NM_000350.3(ABCA4):c.6282+193C>T rs4147865
NM_000350.3(ABCA4):c.6283-347G>A rs12086793
NM_000350.3(ABCA4):c.6284A>T (p.Asp2095Val) rs1064793015
NM_000350.3(ABCA4):c.6328T>C (p.Trp2110Arg)
NM_000350.3(ABCA4):c.6379T>C (p.Ser2127Pro) rs2100993895
NM_000350.3(ABCA4):c.6386+27G>A
NM_000350.3(ABCA4):c.6479+163C>G
NM_000350.3(ABCA4):c.6479+238A>G rs4147866
NM_000350.3(ABCA4):c.6480-129G>C rs10874827
NM_000350.3(ABCA4):c.6498C>T (p.Ile2166=) rs61751379
NM_000350.3(ABCA4):c.655A>T (p.Arg219Ter) rs757557272
NM_000350.3(ABCA4):c.6601_6602del (p.Arg2201fs) rs61751409
NM_000350.3(ABCA4):c.6647C>G (p.Ala2216Gly) rs886044763
NM_000350.3(ABCA4):c.664del (p.Ala222fs) rs61748539
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter) rs61753046
NM_000350.3(ABCA4):c.666_678del (p.Lys223fs) rs63749055
NM_000350.3(ABCA4):c.6670_6671del (p.Ser2224fs) rs1571239957
NM_000350.3(ABCA4):c.67-11T>G rs1662657188
NM_000350.3(ABCA4):c.6729+5_6729+19del rs749526785
NM_000350.3(ABCA4):c.6730-27C>G rs61748522
NM_000350.3(ABCA4):c.677G>A (p.Arg226His) rs144310835
NM_000350.3(ABCA4):c.677G>T (p.Arg226Leu) rs144310835
NM_000350.3(ABCA4):c.6816+1G>A rs773599043
NM_000350.3(ABCA4):c.729T>C (p.Thr243=) rs2101135548
NM_000350.3(ABCA4):c.731T>C (p.Leu244Pro) rs62646864
NM_000350.3(ABCA4):c.735T>G (p.Tyr245Ter) rs1662208035
NM_000350.3(ABCA4):c.760T>C (p.Phe254Leu) rs1662206970
NM_000350.3(ABCA4):c.834del (p.Asp279fs) rs779743222
NM_000350.3(ABCA4):c.853C>T (p.Gln285Ter) rs886041951
NM_000350.3(ABCA4):c.859-11C>T rs61753053
NM_000350.3(ABCA4):c.859-9T>C rs529598960
NM_000350.3(ABCA4):c.913C>T (p.Gln305Ter) rs1661669685

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